46,xy Sex Reversal 2 (SRXY2)

Alias:
Dosage-Sensitive Sex Reversal
46,xy Sex Reversal, Dax1-Related
Srxy2
Dss
46xy Sex Reversal 2, Dosage-Sensitive
46,xy Sex Reversal Dax1-Related
46,xy Sex Reversal, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Sex Reversal 2, also known as dosage-sensitive sex reversal, is related to difference of sex development and 46,xx sex reversal 1. An important gene associated with 46,xy Sex Reversal 2 is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Diseases of glycosylation. Affiliated tissues include ovary and testis, and related phenotypes are sex reversal and Increased shRNA abundance (Z-score > 2)
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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21
212
32

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Phase
No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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